Variant report

Variant	rs2298815
Chromosome Location	chr11:67068859-67068860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67068816-67069532	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67068724-67069814	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67068843-67069210	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67067785-67069845	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:67066339-67071400	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:67068684-67069480	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:67068550-67069476	K562	blood:	n/a	n/a
8	POLR2A	chr11:67066214-67071965	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:67068175-67069583	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67066735-67071495	NB4	blood:	n/a	n/a
11	POLR2A	chr11:67068038-67069630	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:67068823-67069264	K562	blood:	n/a	n/a
13	POLR2A	chr11:67068847-67069362	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
2	chr11:67041964..67046049-chr11:67065840..67069328,4	K562	blood:

Variant related genes	Relation type
SSH3	TF binding region
ANKRD13D	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000173020	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10736657	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10896166	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896167	0.83[GIH][hapmap]
rs10896172	0.86[MEX][hapmap]
rs11819783	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12288048	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12788405	1.00[EUR][1000 genomes]
rs12790040	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12791853	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12805811	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419861	0.88[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1558257	0.86[MEX][hapmap]
rs1638569	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17878756	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883741	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790731	0.88[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790735	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790737	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790738	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790739	0.88[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790762	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894112	0.88[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1944096	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286619	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429459	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2429463	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511057	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2514257	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2532605	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2852875	0.92[ASN][1000 genomes]
rs34000912	0.88[ASN][1000 genomes]
rs34087937	0.88[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35176549	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35247976	0.82[EUR][1000 genomes]
rs35821109	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35876769	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35992831	0.86[EUR][1000 genomes]
rs36085596	0.80[EUR][1000 genomes]
rs3737460	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781943	0.83[GIH][hapmap]
rs4244822	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4255546	0.83[GIH][hapmap]
rs4375446	0.83[GIH][hapmap]
rs4478996	0.83[GIH][hapmap]
rs4930192	0.83[GIH][hapmap];0.88[MEX][hapmap]
rs4930418	0.83[GIH][hapmap];0.88[MEX][hapmap]
rs61734600	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591241	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs66466718	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs674499	0.83[GIH][hapmap]
rs71457775	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7394531	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7934433	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867193	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326373	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9734588	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
8	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
11	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
13	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
14	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67057600-67069200	Weak transcription	Psoas Muscle	Psoas
2	chr11:67058600-67069200	Weak transcription	Fetal Heart	heart
3	chr11:67060000-67069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:67060000-67069600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:67061200-67069000	Strong transcription	Osteobl	bone
6	chr11:67061200-67069800	Weak transcription	Small Intestine	intestine
7	chr11:67061400-67069000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:67062000-67069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:67062200-67070400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:67063600-67069200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:67063600-67069200	Weak transcription	Fetal Brain Male	brain
12	chr11:67063600-67069400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:67063800-67069400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:67063800-67069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:67063800-67070000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:67063800-67070000	Weak transcription	Fetal Kidney	kidney
17	chr11:67063800-67070400	Strong transcription	Dnd41	blood
18	chr11:67064000-67069200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:67064000-67069200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:67064000-67069200	Strong transcription	Fetal Intestine Large	intestine
21	chr11:67064200-67069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:67064400-67069000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:67064400-67069000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:67064400-67069000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:67064400-67069000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:67064400-67069200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:67064400-67069400	Strong transcription	Fetal Stomach	stomach
28	chr11:67064400-67069800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:67064400-67069800	Strong transcription	Fetal Thymus	thymus
30	chr11:67064400-67070400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:67064600-67069400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:67064600-67069800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:67064800-67069800	Weak transcription	NH-A	brain
34	chr11:67065400-67069200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:67065400-67069200	Strong transcription	Primary B cells from cord blood	blood
36	chr11:67065400-67069400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:67065600-67069000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:67065600-67069200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr11:67065600-67070000	Strong transcription	Primary T cells from cord blood	blood
40	chr11:67065800-67069000	Strong transcription	Esophagus	oesophagus
41	chr11:67065800-67069000	Strong transcription	Fetal Intestine Small	intestine
42	chr11:67065800-67069200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:67065800-67069200	Strong transcription	Fetal Lung	lung
44	chr11:67065800-67069200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:67065800-67069200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:67065800-67069200	Strong transcription	HepG2	liver
47	chr11:67065800-67069400	Strong transcription	Brain Germinal Matrix	brain
48	chr11:67065800-67069400	Strong transcription	Fetal Brain Female	brain
49	chr11:67065800-67069400	Strong transcription	NHLF	lung
50	chr11:67065800-67069600	Strong transcription	NHEK	skin

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